Incidental Mutation 'R2132:Cars1'
ID 233397
Institutional Source Beutler Lab
Gene Symbol Cars1
Ensembl Gene ENSMUSG00000010755
Gene Name cysteinyl-tRNA synthetase 1
Synonyms Cars, CA3
MMRRC Submission 040135-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2132 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 143110967-143153827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 143146211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Methionine at position 71 (R71M)
Ref Sequence ENSEMBL: ENSMUSP00000010899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010899] [ENSMUST00000105909] [ENSMUST00000154022]
AlphaFold Q9ER72
Predicted Effect probably damaging
Transcript: ENSMUST00000010899
AA Change: R71M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010899
Gene: ENSMUSG00000010755
AA Change: R71M

DomainStartEndE-ValueType
Pfam:tRNA-synt_1e 124 537 2.7e-128 PFAM
Blast:DALR_2 584 644 2e-13 BLAST
coiled coil region 728 768 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105909
SMART Domains Protein: ENSMUSP00000101529
Gene: ENSMUSG00000010755

DomainStartEndE-ValueType
Pfam:tRNA-synt_1e 41 454 2e-129 PFAM
Pfam:tRNA-synt_1g 387 465 1.2e-6 PFAM
Blast:DALR_2 501 561 1e-13 BLAST
coiled coil region 645 685 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151574
Predicted Effect probably benign
Transcript: ENSMUST00000154022
Meta Mutation Damage Score 0.5029 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 94% (117/124)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Allele List at MGI

All alleles(37) : Targeted, other(2) Gene trapped(35)

Other mutations in this stock
Total: 122 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,112,335 (GRCm39) probably benign Het
4930562C15Rik A C 16: 4,653,835 (GRCm39) Q128P unknown Het
Abcc3 T A 11: 94,258,426 (GRCm39) K473M probably benign Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adgrg7 C A 16: 56,588,281 (GRCm39) A199S probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Ap2b1 T A 11: 83,215,587 (GRCm39) probably benign Het
Atat1 A G 17: 36,220,331 (GRCm39) S54P probably damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
B3gnt3 G A 8: 72,145,971 (GRCm39) T186M probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccdc157 A T 11: 4,100,004 (GRCm39) V116E probably damaging Het
Ccdc85a G A 11: 28,384,151 (GRCm39) T408I probably benign Het
Celf1 G T 2: 90,840,791 (GRCm39) G353W probably damaging Het
Celsr1 T A 15: 85,916,168 (GRCm39) I602F possibly damaging Het
Cenpb C T 2: 131,021,226 (GRCm39) V191M probably damaging Het
Cenpn G A 8: 117,661,536 (GRCm39) probably null Het
Cfap65 A C 1: 74,946,850 (GRCm39) C1287G probably damaging Het
Cmya5 G A 13: 93,205,891 (GRCm39) T3326I probably damaging Het
Cnn3 A T 3: 121,245,584 (GRCm39) E100V probably damaging Het
Col4a4 G A 1: 82,475,581 (GRCm39) R583C unknown Het
Commd7 A C 2: 153,463,586 (GRCm39) probably benign Het
Csmd3 T C 15: 48,320,899 (GRCm39) T304A probably benign Het
Cyp4a14 A T 4: 115,348,588 (GRCm39) S325R probably damaging Het
Dclk2 T C 3: 86,827,353 (GRCm39) N42S probably benign Het
Dmrta1 A T 4: 89,576,946 (GRCm39) Q134L probably damaging Het
Dnaaf3 T A 7: 4,526,800 (GRCm39) I426L probably benign Het
Dnah17 G A 11: 117,924,573 (GRCm39) L3999F probably damaging Het
Dock6 A G 9: 21,757,814 (GRCm39) S97P probably benign Het
Dsg1a T A 18: 20,473,854 (GRCm39) S976T probably damaging Het
Dstyk T A 1: 132,377,222 (GRCm39) M29K probably null Het
Eif3i A T 4: 129,490,719 (GRCm39) H18Q probably benign Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Eps15l1 A T 8: 73,140,712 (GRCm39) V260D probably benign Het
Faf1 A G 4: 109,568,042 (GRCm39) N34S probably damaging Het
Fat3 A G 9: 16,158,015 (GRCm39) probably null Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fcgbpl1 C T 7: 27,854,899 (GRCm39) P1842S probably damaging Het
Fkbp15 C A 4: 62,246,136 (GRCm39) G431W probably damaging Het
Flnb A C 14: 7,873,376 (GRCm38) D224A probably benign Het
Flnc G A 6: 29,443,675 (GRCm39) V566M probably damaging Het
Gli3 T A 13: 15,900,134 (GRCm39) S1174T possibly damaging Het
Glmn A T 5: 107,726,321 (GRCm39) V93E probably damaging Het
Glrx2 T C 1: 143,620,842 (GRCm39) S74P possibly damaging Het
Gm5422 G A 10: 31,124,929 (GRCm39) noncoding transcript Het
Gpi1 T C 7: 33,905,339 (GRCm39) K362E probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Gxylt1 A G 15: 93,142,851 (GRCm39) *405R probably null Het
Heyl T C 4: 123,139,876 (GRCm39) V145A probably damaging Het
Hhipl1 A C 12: 108,277,949 (GRCm39) E92D probably damaging Het
Ifi207 A G 1: 173,557,337 (GRCm39) F467S possibly damaging Het
Ift70b G T 2: 75,767,129 (GRCm39) H541Q probably damaging Het
Igf2r A T 17: 12,941,095 (GRCm39) I462N probably benign Het
Inpp5b A T 4: 124,678,961 (GRCm39) probably benign Het
Kansl2 A G 15: 98,427,278 (GRCm39) I201T probably damaging Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Kcnu1 T A 8: 26,341,928 (GRCm39) I91N probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Klrc3 T A 6: 129,618,501 (GRCm39) Y94F probably benign Het
Lgals3bp T A 11: 118,284,113 (GRCm39) T489S probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Magi1 T C 6: 93,674,255 (GRCm39) E951G probably damaging Het
Mcm7 T C 5: 138,167,364 (GRCm39) Q86R probably damaging Het
Med12l G T 3: 59,172,703 (GRCm39) probably null Het
Morc2a A G 11: 3,629,787 (GRCm39) E402G possibly damaging Het
Mphosph8 T C 14: 56,916,161 (GRCm39) C486R probably benign Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Mtcl1 G T 17: 66,650,618 (GRCm39) H1616N probably benign Het
Myh10 A G 11: 68,698,115 (GRCm39) probably benign Het
Myh8 A G 11: 67,183,702 (GRCm39) E777G probably damaging Het
Nid1 A G 13: 13,684,071 (GRCm39) H1186R probably benign Het
Nppb T A 4: 148,070,454 (GRCm39) S8T probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Ntrk3 G A 7: 78,127,683 (GRCm39) probably benign Het
Or1ak2 A G 2: 36,827,704 (GRCm39) N191S probably benign Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or5al5 A G 2: 85,961,605 (GRCm39) V134A possibly damaging Het
Or5b99 T A 19: 12,976,402 (GRCm39) D17E probably benign Het
Or6f1 C T 7: 85,970,687 (GRCm39) V158M possibly damaging Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pate6 T G 9: 35,701,039 (GRCm39) probably benign Het
Pdlim4 A G 11: 53,954,563 (GRCm39) L48S possibly damaging Het
Phactr3 T C 2: 177,925,759 (GRCm39) F345L probably benign Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Prcp T A 7: 92,550,488 (GRCm39) V95D probably benign Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Ror1 A G 4: 100,267,222 (GRCm39) N308D probably benign Het
Sdccag8 C A 1: 176,783,455 (GRCm39) Q655K probably damaging Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Skap1 T C 11: 96,355,559 (GRCm39) I10T possibly damaging Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Smad2 T A 18: 76,421,155 (GRCm39) C161* probably null Het
Spata31d1a G T 13: 59,848,857 (GRCm39) D1090E probably damaging Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Terf1 A G 1: 15,875,909 (GRCm39) E3G probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tnfrsf26 C T 7: 143,171,577 (GRCm39) probably null Het
Tor1aip1 A C 1: 155,883,308 (GRCm39) M180R probably damaging Het
Trabd2b A T 4: 114,467,205 (GRCm39) Q478L probably benign Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttc39a A G 4: 109,299,903 (GRCm39) Y464C probably damaging Het
Unc5a A G 13: 55,138,896 (GRCm39) S92G probably damaging Het
Unc5d A C 8: 29,365,557 (GRCm39) S143A possibly damaging Het
Usp34 A T 11: 23,414,556 (GRCm39) H2833L possibly damaging Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Wdr17 T G 8: 55,125,541 (GRCm39) K446N probably damaging Het
Xirp2 A T 2: 67,338,392 (GRCm39) Q211L possibly damaging Het
Xkr7 G A 2: 152,894,816 (GRCm39) R256Q probably benign Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp268 T A 4: 145,350,803 (GRCm39) probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp747l1 T C 7: 126,986,107 (GRCm39) D8G probably benign Het
Zfp758 A G 17: 22,594,951 (GRCm39) H479R probably damaging Het
Zfp827 A G 8: 79,912,350 (GRCm39) N284S possibly damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Other mutations in Cars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Cars1 APN 7 143,123,586 (GRCm39) missense probably benign 0.03
IGL02192:Cars1 APN 7 143,125,325 (GRCm39) missense probably damaging 1.00
IGL02645:Cars1 APN 7 143,111,646 (GRCm39) missense probably damaging 0.97
IGL02807:Cars1 APN 7 143,123,209 (GRCm39) missense possibly damaging 0.87
IGL02860:Cars1 APN 7 143,140,158 (GRCm39) missense probably damaging 1.00
IGL03005:Cars1 APN 7 143,112,906 (GRCm39) missense probably damaging 1.00
Vroom UTSW 7 143,124,385 (GRCm39) missense probably damaging 1.00
Zoom UTSW 7 143,146,362 (GRCm39) nonsense probably null
BB001:Cars1 UTSW 7 143,123,608 (GRCm39) missense possibly damaging 0.88
BB011:Cars1 UTSW 7 143,123,608 (GRCm39) missense possibly damaging 0.88
F5493:Cars1 UTSW 7 143,123,608 (GRCm39) missense probably damaging 1.00
R0358:Cars1 UTSW 7 143,142,219 (GRCm39) splice site probably benign
R0452:Cars1 UTSW 7 143,146,362 (GRCm39) nonsense probably null
R0717:Cars1 UTSW 7 143,138,492 (GRCm39) missense probably damaging 0.98
R0930:Cars1 UTSW 7 143,124,307 (GRCm39) missense probably damaging 1.00
R1069:Cars1 UTSW 7 143,123,844 (GRCm39) missense probably benign 0.40
R1184:Cars1 UTSW 7 143,140,876 (GRCm39) missense probably damaging 1.00
R1503:Cars1 UTSW 7 143,122,726 (GRCm39) missense probably benign 0.04
R1755:Cars1 UTSW 7 143,123,194 (GRCm39) missense probably damaging 1.00
R1762:Cars1 UTSW 7 143,146,211 (GRCm39) missense probably damaging 1.00
R1783:Cars1 UTSW 7 143,146,211 (GRCm39) missense probably damaging 1.00
R1786:Cars1 UTSW 7 143,146,211 (GRCm39) missense probably damaging 1.00
R1828:Cars1 UTSW 7 143,130,385 (GRCm39) missense probably damaging 0.97
R2084:Cars1 UTSW 7 143,140,919 (GRCm39) missense probably benign 0.03
R2133:Cars1 UTSW 7 143,146,211 (GRCm39) missense probably damaging 1.00
R2397:Cars1 UTSW 7 143,146,244 (GRCm39) missense possibly damaging 0.61
R4012:Cars1 UTSW 7 143,113,411 (GRCm39) missense possibly damaging 0.65
R4057:Cars1 UTSW 7 143,124,385 (GRCm39) missense probably damaging 1.00
R4082:Cars1 UTSW 7 143,123,234 (GRCm39) missense probably damaging 1.00
R4118:Cars1 UTSW 7 143,113,384 (GRCm39) critical splice donor site probably null
R4527:Cars1 UTSW 7 143,118,786 (GRCm39) missense probably benign 0.22
R4663:Cars1 UTSW 7 143,129,697 (GRCm39) missense probably damaging 1.00
R4758:Cars1 UTSW 7 143,125,304 (GRCm39) missense probably benign 0.01
R4820:Cars1 UTSW 7 143,124,301 (GRCm39) missense probably damaging 1.00
R4921:Cars1 UTSW 7 143,123,212 (GRCm39) missense probably damaging 1.00
R4923:Cars1 UTSW 7 143,123,587 (GRCm39) missense probably damaging 0.97
R5512:Cars1 UTSW 7 143,123,870 (GRCm39) missense possibly damaging 0.91
R6505:Cars1 UTSW 7 143,118,744 (GRCm39) missense probably damaging 1.00
R7125:Cars1 UTSW 7 143,138,510 (GRCm39) missense probably benign 0.01
R7641:Cars1 UTSW 7 143,140,840 (GRCm39) critical splice donor site probably null
R7674:Cars1 UTSW 7 143,140,840 (GRCm39) critical splice donor site probably null
R7812:Cars1 UTSW 7 143,123,784 (GRCm39) missense probably damaging 1.00
R7924:Cars1 UTSW 7 143,123,608 (GRCm39) missense possibly damaging 0.88
R8260:Cars1 UTSW 7 143,139,446 (GRCm39) missense probably benign
R8447:Cars1 UTSW 7 143,123,766 (GRCm39) missense possibly damaging 0.67
R8905:Cars1 UTSW 7 143,140,196 (GRCm39) missense probably damaging 1.00
R9200:Cars1 UTSW 7 143,129,654 (GRCm39) critical splice donor site probably null
R9240:Cars1 UTSW 7 143,138,533 (GRCm39) missense probably benign 0.01
R9441:Cars1 UTSW 7 143,123,185 (GRCm39) missense probably benign 0.00
R9566:Cars1 UTSW 7 143,113,384 (GRCm39) critical splice donor site probably null
R9603:Cars1 UTSW 7 143,112,929 (GRCm39) missense possibly damaging 0.83
X0021:Cars1 UTSW 7 143,130,321 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGAAGTGGTCCCAAAGGTG -3'
(R):5'- TCTGAGCATTAGTGACGAGGC -3'

Sequencing Primer
(F):5'- GGTTACATGACTTTATCCTACCAGAC -3'
(R):5'- CATTAGTGACGAGGCAGCCAG -3'
Posted On 2014-10-01